OMIA:001323-10105 : Dwarfism, GHR-related in Mus minutoides (Southern African pygmy mouse)
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: no
Cross-species summary: similar to Laron Syndrome in humans renamed from 'Dwarfism, Laron' [28/04/2023]
Species-specific description: Matsuya et al. (2023) "investigate[d] the growth hormone receptor (Ghr) gene sequence in M. minutoides. [The authors] identified several amino acid variations, including the P469L mutation. [The] findings suggest that this mutation affects Ghr protein functionality, decreasing Igf1 expression and contributing to the dwarfism observed in [the species] M. minutoides."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|2023||Matsuya, S., Fujino, K., Imai, H., Kusakabe, K.T., Kano, K. :|
|Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism. MicroPubl Biol 2023, 2023. Pubmed reference: 37767364. DOI: 10.17912/micropub.biology.000955.|
- Created by Imke Tammen2 on 03 Oct 2023
- Changed by Imke Tammen2 on 03 Oct 2023